On 13 June 2023, the Department of Health and Aged Care updated its website to state they are “working with states and territories to expand Australia’s NBS programs, and make sure all babies born have access to the same screening.” This milestone agreement ensures timely and consistent screening and wrap around care. Read the media release issued on International Neonatal Screening Day from the Department of Health and Aged Care for more information about these changes. The findings from the Consultation Survey can also now be downloaded on the website.
In addition to listing conditions currently screened, moving forward, the website also lists the following for transparency:
- Conditions not consistently screened for, agreed for implementation
- Conditions currently under review, not currently screened for
- Conditions identified for newborn bloodspot screening (NBS) technical advice
For the first time in 60 years, Australia has an agreed national list of NBS conditions and there is specific funding to achieve consistency across Australia. Additionally, these changes cement Australia as a world leader in NBS. As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better outcomes as it enables the best immediate treatment and care.
What This Means for the Rare Disease Community
Rare Voices Australia (RVA) welcomes this announcement as this marks the end of the NBS postcode lottery and enables children and families to access screening and vital specialist care. Previously, it has taken anywhere from 5 to 14 years for new conditions to be included for screening. As the national peak body for Australians living with a rare disease and as part of our Education Program, RVA is hosting a webinar to provide further detail about these changes and their impact on Australians living with a rare disease.
RVA Education Webinar – ‘Expanding Newborn Bloodspot Screening: Progress Made and Next Steps’
Webinar Details
Date: Wednesday 12 July 2023
Time: 10:30am – 12pm AEST
All are welcome to register. The webinar will consist of presentations and a Q&A session. The presentations will be recorded and uploaded to RVA’s Online Education Portal. The Q&A session will only be available to those attending live.
Submit Your Questions
You are welcome to submit your questions for consideration ahead of the webinar. Please email all questions to: [email protected]
Note: the Q&A session will only be available to those attending live.
The Webinar Will Cover:
- Expanding NBS and the Australian Government’s objectives
- Progress made regarding NBS
- States/NBS programs’ perspectives
- NBS public consultation/follow up consultation findings; actions taken; next steps and future-proofing screening
- Reflections on NBS advocacy
- The importance of these changes for Australians living with a rare disease
Presenters
Hon Mark Butler MP – Minister for Health and Aged Care
The Hon Mark Butler MP has been a Labor Member in the Federal Parliament since 2007 and is the Minister for Health and Aged Care. He served as the Member for Port Adelaide from 2007 – 2019 and after a federal redistribution, which saw the abolition of the seat of Port Adelaide, he was elected the Member for Hindmarsh.
The Minister served as Minister for Ageing and Australia’s first Minister for Mental Health in the Gillard Government. He has also held the ministries of Housing, Homelessness, Social Inclusion, Climate Change, Water and the Environment.
Before Minister Butler was elected to parliament, he worked for some of the most disadvantaged people in the community as an official with United Voice for over 15 years, including 11 years as State Secretary. Go to the Australian Labor Party’s website to read Minister Butler’s full biography.
Senator the Hon Anne Ruston – Shadow Minister for Health and Aged Care
Senator the Hon Anne Ruston has been a Senator since September 2012. She is currently the Shadow Minister for Health and Aged Care, Shadow Minister for Sport and Manager of Opposition Business in the Senate.
In July 2014, Senator Ruston was elected Senior Deputy Government Whip in the Senate and Chair of the Senate Environment and Communications Legislation Committee. She was also an active participant in the Rural and Regional Affairs and Transport Committee.
Senator Ruston was appointed Assistant Minister of Agriculture and Water Resources in September 2015. She was subsequently appointed as Assistant Minister for International Development and the Pacific in August 2018. Read Senator Ruston’s full biography via her website.
Dr Mike Freelander MP – Chair, Standing Committee on Health, Aged Care and Sport; and Co-Chair, Parliamentary Friends of Rare Diseases
Dr Mike Freelander is a local paediatrician who has dedicated his life’s work to making sure kids get the best start possible.
Dr Freelander completed his training at the Children’s Hospital in Camperdown and started his residency as a paediatrician at Campbelltown Hospital in 1984. Dr Freelander and his wife Sharon moved to the Macarthur region that same year, where they raised their six children. In 1990 Dr Freelander took on the role of Head of Paediatrics at Campbelltown Hospital.
Dr Freelander has seen how important it is that families in Macarthur have quality health care. He set up a practice in Campbelltown, and later in Camden, to make sure families could access health care in Macarthur, when and where they needed it. Read Dr Freelander’s full biography on the Australian Labor Party’s website.
Lisa Schofield PSM – First Assistant Secretary Cancer, Hearing and Chronic Conditions, Department of Health and Aged Care
Ms Lisa Schofield has been leading the Cancer, Hearing and Chronic Conditions Division as the First Assistant Secretary since August 2022. In this role, she manages the National Cancer Screening Programs and the Hearing Services Program, which she has done since February 2022. She also manages policy and projects for palliative care, cancer, newborn screening, chronic conditions and population screening.
Since joining Health in May 2020 until the end of 2021, Lisa managed the Health Economics and Research Division for a short time, responsible for the Medical Research Future Fund and health economic and data analysis, before establishing and managing the COVID-19 Vaccination Program. She drove the strategy and policy for consideration by the Australian Government and the states and territories, through the National Cabinet.
Lisa has almost 20 years’ experience working in the Australian Government where she has held policy leadership roles in health, offshore resources, innovation, and higher education.
Ms Schofield received her Public Service Medal in the Australia Day Honours List of 2021 for outstanding public service in the delivery of the treaty establishing maritime boundaries between Australia and Timor-Leste.
Dr Kevin Carpenter – Chief Executive Officer, Human Genetics Society of Australasia
Kevin Carpenter trained in Clinical Chemistry in Sheffield in the UK. He obtained an MSc from the University of Leeds and a PhD with the University of Sheffield, and entered the field of inborn errors of metabolism at Sheffield Children’s Hospital in the mid-1980s.
He was Principal Scientist at the NSW Biochemical Genetics Service from 1994 to 2017 and is currently the CEO of the Human Genetics Society of Australasia (HGSA). He is a past President of the HGSA, and a Founding Fellow of the Faculty of Science RCPA.
Nicole Millis – Chief Executive Officer, Rare Voices Australia
A qualified social worker, Nicole has both personal and professional experience in the rare disease sector. Nicole has engaged in rare disease advocacy since 2008 and has extensive experience regarding access to treatments. Since 2018, Nicole has held the role of consumer nominee on the Life Saving Drugs Program Expert Panel. Under Nicole’s guidance, RVA led the collaborative development of the National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.
Host/Q&A Session Moderator
Louise Healy – Education and Advocacy Manager, Rare Voices Australia
Louise has extensive experience working as a consultant and coach in the corporate sector and has post graduate qualifications in psychology. Her connection with rare conditions began when her first child was born with a rare metabolic disorder. Louise has been involved in rare disease support and advocacy for over 10 years and she is the current Vice President of the Metabolic Dietary Disorders Association (MDDA). She has led successful advocacy campaigns for access to medicines and support programs for people with rare disorders of protein metabolism. Louise is a previous RVA Board member, current member of the Queensland Genomics Community Advisory Board and a founding board member of the Global Association for PKU.
Why Changes to Newborn Bloodspot Screening Are Important
NBS is an important program that supports the earliest possible diagnosis of some rare diseases. The rare disease community has been calling for increased equity, timeliness and consistency of screening for several years.
RVA has been highlighting the need for increased sustainability, equity, transparency and consistency of NBS through targeted and informed advocacy at both the Commonwealth and state levels. We will continue to work alongside all governments as they continue to expand NBS programs.
